Living with Chromosome 3q29 microdeletion syndrome
A small missing piece of chromosome 3 that raises the chance of delays, learning differences, and mental health conditions, though some people have mild or no signs.
Understanding Chromosome 3q29 microdeletion syndrome
Features vary widely. Some people have very mild or no signs, and the deletion is found only after a relative is diagnosed. Most have delayed development, especially speech, and mild or moderate intellectual disability. There is a higher risk of autism, anxiety, bipolar disorder, and schizophrenia. Infants often have feeding difficulties and poor weight gain, low muscle tone, and ear infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Intellectual disability
- Small head size (microcephaly)
- Large, low-set ears
- Prominent nasal bridge
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is caused by a small missing piece (deletion) of chromosome 3 at q29. It is listed as autosomal dominant.
Also known as: 3q subtelomere deletion syndrome; 3q29 deletion syndrome; 3q29 microdeletion syndrome; 3q29 recurrent microdeletion syndrome; 3qter deletion; chromosome 3q29 deletion syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 3q29 microdeletion syndrome.
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